Incidental Mutation 'IGL00769:Msl3'
ID12106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msl3
Ensembl Gene ENSMUSG00000031358
Gene NameMSL complex subunit 3
SynonymsMsl31, Msl3l1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.314) question?
Stock #IGL00769
Quality Score
Status
ChromosomeX
Chromosomal Location168654117-168673898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 168668748 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 215 (E215V)
Ref Sequence ENSEMBL: ENSMUSP00000033725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033725] [ENSMUST00000112137]
Predicted Effect probably damaging
Transcript: ENSMUST00000033725
AA Change: E215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033725
Gene: ENSMUSG00000031358
AA Change: E215V

DomainStartEndE-ValueType
CHROMO 32 90 2.08e-5 SMART
Pfam:MRG 155 506 1.3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112137
AA Change: E156V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107765
Gene: ENSMUSG00000031358
AA Change: E156V

DomainStartEndE-ValueType
Blast:CHROMO 3 31 2e-11 BLAST
PDB:3OA6|B 3 42 6e-16 PDB
Pfam:MRG 47 449 7.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129860
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in Msl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Msl3 APN X 168670251 missense probably benign 0.00
R3932:Msl3 UTSW X 168671817 missense probably damaging 0.99
R3933:Msl3 UTSW X 168671817 missense probably damaging 0.99
R4214:Msl3 UTSW X 168662434 missense probably damaging 1.00
R4214:Msl3 UTSW X 168667063 missense probably damaging 1.00
Posted On2012-12-06